Congenital malformation in which oxycephaly, brachysyndactyly of hand, and preaxial polydactyly of feet are associated with mental retardation; it is usually inherited as an autosomal recessive trait [MIM *200995, *201000] but there is also a dominant form [MIM*101120]. Syn: Carpenter’s syndrome(2), Goodman’s syndrome, Noack’s syndrome, Sakati-Nyhan syndrome.